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GENE - TERM ANNOTATION REPORT

RGD ID: 11799750
Species: Pan paniscus
RGD Object: Gene
Symbol: COL2A1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0112195
Term: spondyloperipheral dysplasia
Definition: An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/15316962/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/8723097/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
COL2A1 ISOCOL2A1 (Homo sapiens)7240710OMIM  
COL2A1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spondyloperipheral dysplasia | ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna | ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndromePMID:10612821 PMID:11746045 PMID:14729840 PMID:15266623 PMID:15316962 PMID:15895462 PMID:17078022 PMID:17347327 PMID:17509551 PMID:17726487 PMID:18272325 PMID:18276201 PMID:1905723 PMID:19344236 PMID:21472893 PMID:21924244 PMID:23079993 PMID:24033266 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:25900302 PMID:26037341 PMID:26443184 PMID:26467025 PMID:26626311 PMID:28492532 PMID:32381255 PMID:34008892 PMID:7550321 PMID:7695699 PMID:7752132 PMID:7977371 PMID:8218237 PMID:8325895 PMID:8423604 PMID:8702139 PMID:8723097 PMID:8893763 PMID:9016532 PMID:9101290
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